588 Delayed Diagnosis of Hereditary Angioedema. A Case Report

BACKGROUND: Hereditary angioedema (HAE) was first described by Quincke in 1882 and appointed by Osler in 1888, is a rare disease caused by deficiency of gene esterase inhibitor C1 (C1 INH). Prevalence varies from 1:10,000 to 1:150,000. The attacks are usually sporadic and often associated with traumatic or stressful events. Treatment included management of acute attacks and prophylactic therapy in specific situations where attacks may occur. METHODS: A 40-year-old male with a family history of father facial angioedema. He had experienced 15 episodes of angioedema during the previous 5 years. During these events than lasted 3 to 5 days edema affected his eyelids, lips, hands, feet and testicles. And sometimes was associated to abdominal pain and shortness of breath. He went several times to medical office and emergency room, where he received treatment with antihistamines without improvement. RESULTS: The laboratory evaluation of complement components showed C4 2s0.8 (NV 20–50), CH50 10.1 (NV 20–50), C1 inhibitor quantitative <1.2 ng Eq/mL (NV > 10.7), and C1 esterase inhibitor functional 104% (NV > 67%), once the diagnosis of type I hereditary angioedema was done, we started danazol therapy that has prevented recurrence of symptoms. CONCLUSIONS: It is important to do a detailed history for the diagnosis and treatment in cases of angioedema. Most patients improve when receiving the right treatment. Recurrent angioedema events even with treatment, the physician must search for malignity and/or autoimmunity disease.